Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3 and OCA2. Mutations in GABRB3 have been frequently associated with epilepsy and au...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Cell Rep
Glavni autori: Delahanty, Ryan J., Zhang, Yanfeng, Bichell, Terry Jo, Shen, Wangzhen, Verdier, Kelienne, Macdonald, Robert L., Xu, Lili, Boyd, Kelli, Williams, Janice, Kang, Jing-Qiong
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240804/
https://ncbi.nlm.nih.gov/pubmed/28009282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2016.11.067
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items